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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:BH4-deficient hyperphenylalaninemia C
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Accession:DOID:0081130 term browser browse the term
Definition:A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15. (DO)
Synonyms:exact_synonym: DHPR DEFICIENCY;   DIHYDROPTERIDINE REDUCTASE DEFICIENCY;   Dihydropteridine Reductase Deficiency Disease;   HPABH4C;   HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY;   QDPR DEFICIENCY;   QUINOID DIHYDROPTERIDINE REDUCTASE DEFICIENCY;   tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency
 primary_id: OMIM:261630
 alt_id: DOID:9002203
 xref: NCI:C138173


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BH4-deficient hyperphenylalaninemia C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Qdpr quinoid dihydropteridine reductase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dihydropteridine reductase deficiency | ClinVar Annotator: match by term: Quinoid dihydropteridine reductase deficiency		 OMIM
CTD
ClinVar		 PMID:1283784 PMID:2116088 PMID:7627180 PMID:8326489 PMID:8518287 More... NCBI chr14:65,670,251...65,683,853
Ensembl chr14:65,670,131...65,683,854 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8247
      disease of metabolism 8247
        inherited metabolic disorder 6257
          amino acid metabolic disorder 1523
            phenylketonuria 42
              BH4-deficient hyperphenylalaninemia C 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            Metabolic Brain Diseases 1490
              Metabolic Brain Diseases, Inborn 1358
                phenylketonuria 42
                  BH4-deficient hyperphenylalaninemia C 1
paths to the root